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White matter disorders and cerebral calcification - narrow panel v0.11 | PEX19 |
Ellen McDonagh gene: PEX19 was added gene: PEX19 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger) |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PEX16 |
Ellen McDonagh gene: PEX16 was added gene: PEX16 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 8A, (Zellweger); Peroxisome biogenesis disorder 8B; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PEX14 |
Ellen McDonagh gene: PEX14 was added gene: PEX14 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX14 were set to 15146459 Phenotypes for gene: PEX14 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PEX13 |
Ellen McDonagh gene: PEX13 was added gene: PEX13 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX13 were set to 25655951 Phenotypes for gene: PEX13 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PEX12 |
Ellen McDonagh gene: PEX12 was added gene: PEX12 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX12 were set to 25655951 Phenotypes for gene: PEX12 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 3A (Zellweger); General Leukodystrophy & Mitochondrial Leukoencephalopathy; Peroxisome biogenesis disorder 3B; Peroxisome biogenesis disorder 3A,B |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PEX10 |
Ellen McDonagh gene: PEX10 was added gene: PEX10 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX10 were set to 25655951 Phenotypes for gene: PEX10 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 |
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White matter disorders and cerebral calcification - narrow panel v0.11 | PEX1 |
Ellen McDonagh gene: PEX1 was added gene: PEX1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX1 were set to 25655951 Phenotypes for gene: PEX1 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 1A,B; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Peroxisome biogenesis disorder 1A (Zellweger) |